Canonical Allele Identifier: CA2335052651
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2885532
ClinVar RCV Id: RCV003758042
dbSNP Id: rs1969986035
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499264del , CM000681.2:g.38499264del GRCh38
NC_000019.9:g.38989904del , CM000681.1:g.38989904del GRCh37
NC_000019.8:g.43681744del NCBI36
NG_008866.1:g.70565del , LRG_766:g.70565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7027+21del ENSP00000471601.2:n.7027+21del
ENST00000359596.8:c.7027+21del MANE Select ENSP00000352608.2:n.7027+21del
ENST00000355481.8:c.7027+21del ENSP00000347667.3:n.7027+21del
ENST00000359596.7:c.7027+21del ENSP00000352608.2:n.7027+21del
ENST00000360985.7:c.7024+21del ENSP00000354254.4:n.7024+21del
ENST00000594335.5:c.479+21del
NM_000540.2:c.7027+21del , LRG_766t1:c.7027+21del NP_000531.2:n.7027+21del
NM_001042723.1:c.7027+21del NP_001036188.1:n.7027+21del
XM_006723317.1:c.7027+21del XP_006723380.1:n.7027+21del
XM_006723319.1:c.7027+21del XP_006723382.1:n.7027+21del
XM_011527204.1:c.7024+21del XP_011525506.1:n.7024+21del
XM_011527205.1:c.7027+21del XP_011525507.1:n.7027+21del
XM_006723317.2:c.7027+21del XP_006723380.1:n.7027+21del
XM_006723319.2:c.7027+21del XP_006723382.1:n.7027+21del
XM_011527205.2:c.7027+21del XP_011525507.1:n.7027+21del
XR_001753735.1:n.7110+21del
NM_000540.3:c.7027+21del MANE Select NP_000531.2:n.7027+21del
NM_001042723.2:c.7027+21del NP_001036188.1:n.7027+21del
Search 100 bp 5'
Search 100 bp 3'